Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs17582214
rs17582214 		1 1.000 0.040 9 119676531 regulatory region variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs3092920
rs3092920 		2 0.925 0.160 X 136661832 downstream gene variant G/T snv 0.23 0.010 1.000 1 2018 2018
dbSNP: rs3092952
rs3092952 		3 0.925 0.160 X 136644791 upstream gene variant A/G snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs4837656
rs4837656 		1 1.000 0.040 9 119671775 intergenic variant T/C snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs3092936
rs3092936
CD40LG
2 1.000 0.040 X 136654046 intron variant T/C snv 8.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs1129055
rs1129055
CD86
15 0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25 0.010 1.000 1 2018 2018
dbSNP: rs16910526
rs16910526
CLEC7A ; LOC105369655
12 0.742 0.280 12 10118488 stop gained A/C;G snv 6.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs4553808
rs4553808
CTLA4
28 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs4415345
rs4415345
DEFA5
1 1.000 0.040 8 7057895 upstream gene variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs4610776
rs4610776
DEFA5
1 1.000 0.040 8 7057155 upstream gene variant A/T snv 0.26 0.010 1.000 1 2018 2018
dbSNP: rs2232365
rs2232365
FOXP3
16 0.716 0.480 X 49259429 intron variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs3761549
rs3761549
FOXP3
18 0.724 0.480 X 49260888 intron variant G/A snv 9.6E-02 0.010 1.000 1 2018 2018
dbSNP: rs37972
rs37972
GLCCI1 ; UMAD1 ; GLCCI1-DT
5 0.851 0.160 7 7967878 3 prime UTR variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs9277378
rs9277378
HLA-DPA1 ; HLA-DPB1
5 0.827 0.320 6 33082502 intron variant A/G snv 0.40 0.010 1.000 1 2017 2017
dbSNP: rs9277534
rs9277534
HLA-DPB1
7 0.790 0.280 6 33087030 3 prime UTR variant A/G snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs4693608
rs4693608
HPSE
6 0.827 0.200 4 83320204 intron variant G/A;C snv 0.020 1.000 2 2010 2014
dbSNP: rs4364254
rs4364254
HPSE
3 0.882 0.080 4 83302560 intron variant C/T snv 0.63 0.010 1.000 1 2010 2010
dbSNP: rs2069727
rs2069727
IFNG ; IFNG-AS1
9 0.763 0.320 12 68154443 intron variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs2275913
rs2275913
IL17A
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2011 2011
dbSNP: rs2310241
rs2310241
IL1RL2
1 1.000 0.040 2 102225489 intron variant A/C snv 0.44 0.010 1.000 1 2019 2019
dbSNP: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.020 1.000 2 2012 2018
dbSNP: rs1800797
rs1800797
IL6 ; STEAP1B ; IL6-AS1
43 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 0.010 1.000 1 2015 2015
dbSNP: rs4845618
rs4845618
IL6R
5 0.851 0.160 1 154427539 intron variant G/T snv 0.53 0.010 1.000 1 2018 2018
dbSNP: rs6897932
rs6897932
IL7R
25 0.683 0.560 5 35874473 missense variant C/T snv 0.23 0.21 0.010 1.000 1 2018 2018